C54C (p.Cys54Cys) variant of GJA5 (Gap junction alpha-5 protein)
C54C (p.Cys54Cys) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
C54C (p.Cys54Cys) variant details
- p.Cys54Cys
- gnomAD 1-147759077-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available